Point mutation analysis of four human colorectal cancer exomes

As the affordability, performance and availability of Next Generation Sequencing (NGS) increases, sequencing data accumulates and with it the need to analyse it for useful information about the biological systems under study. Among the disciplines looking to gain insights from sequencing data is cancer research, which seeks to answer questions on cancer development, progression and treatment options. All three of these are linked to mutations in cancer cells, and so identifying and interpreting mutations in cancer genomes has been a major task in cancer genomics (Meyerson et al. [2010]), Stratton [2011], Pfeifer and Hainaut [2011]). This work aims to identify and analyse point mutations in NGS data from four different human cancer exomes. Point mutations are one particular type of mutation where exactly one base of the genome is altered with respect to the reference genome. To limit the scope of this work, this analysis excludes single nucleotide insertions and deletions (indels).